Published in Science on May 07, 1993
Clinical and pathological characteristics of sporadic colorectal carcinomas with DNA replication errors in microsatellite sequences. Am J Pathol (1994) 4.43
Antioncogenes and human cancer. Proc Natl Acad Sci U S A (1993) 4.09
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. Clin Genet (2009) 3.99
Intestinal floras of populations that have a high risk of colon cancer. Appl Environ Microbiol (1995) 3.77
Multistage carcinogenesis and the incidence of colorectal cancer. Proc Natl Acad Sci U S A (2002) 3.64
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol (2015) 3.19
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency. Gastroenterology (2014) 2.96
Histopathological identification of colon cancer with microsatellite instability. Am J Pathol (2001) 2.90
Dual requirement in yeast DNA mismatch repair for MLH1 and PMS1, two homologs of the bacterial mutL gene. Mol Cell Biol (1994) 2.80
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27. Am J Hum Genet (2002) 2.74
Trinucleotide repeats associated with human disease. Nucleic Acids Res (1997) 2.35
Simple tandem DNA repeats and human genetic disease. Proc Natl Acad Sci U S A (1995) 2.18
Architecture of inherited susceptibility to common cancer. Nat Rev Cancer (2010) 2.14
Hereditary nonpolyposis colorectal cancer (HNPCC)/Lynch syndrome. Dtsch Arztebl Int (2013) 2.09
Microsatellite instability and the clinicopathological features of sporadic colorectal cancer. Gut (2001) 2.08
Lynch syndrome genes. Fam Cancer (2005) 1.94
Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest (1996) 1.94
Transgenic mouse models that explore the multistep hypothesis of intestinal neoplasia. J Cell Biol (1993) 1.91
The mutation rate and cancer. Genetics (1998) 1.88
Pathogenesis of non-familial colorectal carcinomas with high microsatellite instability. J Clin Pathol (2000) 1.75
Conventional and tissue microarray immunohistochemical expression analysis of mismatch repair in hereditary colorectal tumors. Am J Pathol (2003) 1.67
Replication errors: cha(lle)nging the genome. EMBO J (1998) 1.62
Hereditary ovarian carcinoma: heterogeneity, molecular genetics, pathology, and management. Mol Oncol (2009) 1.61
Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer. Am J Hum Genet (1996) 1.58
Genetic instability in human ovarian cancer cell lines. Proc Natl Acad Sci U S A (1994) 1.56
Recurrent germline mutation in MSH2 arises frequently de novo. J Med Genet (2000) 1.49
Use of microsatellite instability and immunohistochemistry testing for the identification of individuals at risk for Lynch syndrome. Fam Cancer (2005) 1.47
Frequency of replication errors in colorectal cancer and their association with family history. Gut (1998) 1.46
Evolution of the nomenclature for the hereditary colorectal cancer syndromes. Fam Cancer (2005) 1.40
DNA mismatch repair genes and colorectal cancer. Gut (2000) 1.34
K-ras mutation in colorectal cancer: relations to patient age, sex and tumour location. Br J Cancer (1994) 1.31
A segregation analysis of testicular cancer based on Norwegian and Swedish families. Br J Cancer (1997) 1.31
Quality assessment and correlation of microsatellite instability and immunohistochemical markers among population- and clinic-based colorectal tumors results from the Colon Cancer Family Registry. J Mol Diagn (2011) 1.27
Pathologic predictors of microsatellite instability in colorectal cancer. Am J Surg Pathol (2009) 1.23
Replication error phenotype, clinicopathological variables, and patient outcome in Dukes' B stage II (T3,N0,M0) colorectal cancer. Gut (2000) 1.21
A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer. J Med Genet (1999) 1.21
How many mutations does it take to make a tumor? Proc Natl Acad Sci U S A (1999) 1.20
Hereditary colorectal cancer in the general population: from cancer registration to molecular diagnosis. Gut (1999) 1.19
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage. Am J Hum Genet (1994) 1.18
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics (2007) 1.17
Genetic and clinical characterisation of familial adenomatous polyposis: a population based study. Gut (2002) 1.16
Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families. Proc Natl Acad Sci U S A (1994) 1.14
A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype. Proc Natl Acad Sci U S A (1994) 1.11
The detection of K-ras mutations in colorectal cancer using the amplification-refractory mutation system. Br J Cancer (1998) 1.09
Clinical heterogeneity of familial colorectal cancer and its influence on screening protocols. Gut (1994) 1.09
Molecular lesions in colorectal cancer: impact on prognosis? Original data and review of the literature. Int J Colorectal Dis (2003) 1.07
Elevated c-Src tyrosine kinase activity in premalignant epithelia of ulcerative colitis. J Clin Invest (1994) 1.07
Clinical and pathological significance of microsatellite instability in sporadic endometrial carcinoma. Am J Pathol (1996) 1.06
Analysis of genomic instability in Li-Fraumeni fibroblasts with germline p53 mutations. Oncogene (1996) 1.05
Microsatellite-stable diploid carcinoma: a biologically distinct and aggressive subset of sporadic colorectal cancer. Br J Cancer (2001) 1.04
Low level microsatellite instability may be associated with reduced cancer specific survival in sporadic stage C colorectal carcinoma. Gut (2005) 1.02
Characterization of pathogenic human MSH2 missense mutations using yeast as a model system: a laboratory course in molecular biology. Cell Biol Educ (2004) 1.02
The phenotypic expression of three MSH2 mutations in large Newfoundland families with Lynch syndrome. Fam Cancer (2007) 1.01
Transforming growth factor beta stimulation of colorectal cancer cell lines: type II receptor bypass and changes in adhesion molecule expression. Proc Natl Acad Sci U S A (1999) 1.01
Colon cancer connections. Cancer syndrome meets molecular biology meets histopathology. Am J Pathol (1994) 0.99
Evidence for genetic anticipation in non-Mendelian diseases. Am J Hum Genet (1996) 0.98
Muir-Torre syndrome: a variant of the cancer family syndrome. J Med Genet (1994) 0.97
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion. Am J Gastroenterol (2011) 0.97
The Evolving Genome Project: current and future impact. Am J Hum Genet (1994) 0.95
Evaluation of psychosocial effects of pre-symptomatic testing for breast/ovarian and colon cancer pre-disposing genes: a 12-month follow-up. Fam Cancer (2004) 0.95
History, genetics, and strategies for cancer prevention in Lynch syndrome. Clin Gastroenterol Hepatol (2013) 0.95
The history of Lynch syndrome. Fam Cancer (2013) 0.94
The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer. Int J Colorectal Dis (2006) 0.94
Hereditary nonpolyposis colorectal cancer (Lynch syndrome): criteria for identification and management. Dig Dis Sci (2005) 0.94
Dynamic mutations on the move. J Med Genet (1993) 0.93
Genome-wide association study of endometrial cancer in E2C2. Hum Genet (2013) 0.93
Molecular aspects of melanocytic dysplastic nevi. J Mol Diagn (2002) 0.92
Ovarian surface epithelium: family history and early events in ovarian cancer. Reprod Biol Endocrinol (2003) 0.92
Microsatellite instability in squamous cell carcinoma of the head and neck. Br J Cancer (1995) 0.89
Osteopenia in 37 members of seven families: analysis based on a model of dominant inheritance. Mol Med (1996) 0.89
Bloom syndrome and maternal uniparental disomy for chromosome 15. Am J Hum Genet (1994) 0.88
Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families. Am J Hum Genet (1994) 0.87
Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet (1995) 0.86
Similarities in the Age-Specific Incidence of Colon and Testicular Cancers. PLoS One (2013) 0.86
Genetic linkage analysis in hereditary non-polyposis colon cancer syndrome. J Med Genet (1995) 0.86
Microsatellite alteration at chromosome 3p loci in neuroendocrine and non-neuroendocrine lung tumors. Histogenetic and clinical relevance. Am J Pathol (1996) 0.86
Family history of cancer, body weight, and p53 nuclear overexpression in Duke's C colorectal cancer. Br J Cancer (1995) 0.86
Chemotherapy of MMR-deficient colorectal cancer. Fam Cancer (2013) 0.85
DNA mismatch repair gene mutations in human cancer. Environ Health Perspect (1997) 0.85
Molecular basis for subdividing hereditary colon cancer? Gut (2005) 0.85
The functional relevance of somatic synonymous mutations in melanoma and other cancers. Pigment Cell Melanoma Res (2015) 0.84
123I-labelled vasoactive intestinal peptide receptor scintigraphy in patients with colorectal cancer. Br J Cancer (1998) 0.84
Mutation of the p53 gene precedes aneuploid clonal divergence in colorectal carcinoma. Br J Cancer (1995) 0.84
Prognostic Impact of Deficient DNA Mismatch Repair and Mutations in KRAS, and BRAF(V600E) in Patients with Lymph Node-Positive Colon Cancer. Curr Colorectal Cancer Rep (2014) 0.83
Genetic testing for polyposis: practical and ethical aspects. Gut (2003) 0.82
Genetic counselling and testing for susceptibility to breast, ovarian and colon cancer: where are we today? CMAJ (1996) 0.82
A personal historical view of DNA mismatch repair with an emphasis on eukaryotic DNA mismatch repair. DNA Repair (Amst) (2015) 0.82
Familial colorectal cancer. BMJ (1993) 0.82
Mini- and microsatellites. Environ Health Perspect (1997) 0.81
Genetic detection of Chinese hereditary nonpolyposis colorectal cancer. World J Gastroenterol (2004) 0.81
DNA mismatch repair and Lynch syndrome. J Mol Histol (2006) 0.81
Clinicopathological and molecular genetic analysis of HNPCC in China. World J Gastroenterol (2005) 0.81
Congenital hypertrophy of the retinal pigment epithelium and mandibular osteomata as markers in familial colorectal cancer. Br J Cancer (1994) 0.80
A large MSH2 Alu insertion mutation causes HNPCC in a German kindred. Hum Genet (2004) 0.80
A procedure for the detection of linkage with high density SNP arrays in a large pedigree with colorectal cancer. BMC Cancer (2007) 0.79
Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients. World J Gastroenterol (2007) 0.79
Establishing a cancer genetics programme in Asia - the singapore experience. Hered Cancer Clin Pract (2006) 0.78
DNA double strand break repair and its association with inherited predispositions to breast cancer. Hered Cancer Clin Pract (2004) 0.78
New colon cancer gene discovered. Science (1993) 29.03
Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am J Hum Genet (1998) 19.35
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
Clues to the pathogenesis of familial colorectal cancer. Science (1993) 14.52
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology (1999) 11.94
Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet (1999) 10.94
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell (1993) 9.93
The International Collaborative Group on Hereditary Non-Polyposis Colorectal Cancer (ICG-HNPCC). Dis Colon Rectum (1991) 9.82
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (2000) 8.41
Structure of the gene encoding the immunodominant surface antigen on the sporozoite of the human malaria parasite Plasmodium falciparum. Science (1984) 8.18
Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
A National Cancer Institute Workshop on Hereditary Nonpolyposis Colorectal Cancer Syndrome: meeting highlights and Bethesda guidelines. J Natl Cancer Inst (1997) 5.68
Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med (1994) 5.12
Comparison of human genetic and sequence-based physical maps. Nature (2001) 4.97
Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history. Cancer Res (1993) 4.93
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
Chromosome 5 allele loss in human colorectal carcinomas. Nature (1987) 4.46
Resistance to erythromycin in group A streptococci. N Engl J Med (1992) 4.42
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27
Evaluation of candidate tumour suppressor genes on chromosome 18 in colorectal cancers. Nat Genet (1996) 4.09
BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum. Gut (2004) 4.06
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science (1994) 4.02
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98
Closing in on a breast cancer gene on chromosome 17q. Am J Hum Genet (1992) 3.89
The grading of rectal cancer: historical perspectives and a multivariate analysis of 447 cases. Histopathology (1986) 3.70
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet (2001) 3.57
A new prognostic classification of rectal cancer. Lancet (1987) 3.56
Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (1995) 3.45
A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps. Hum Mol Genet (1995) 3.44
Estimation of pairwise relationships in the presence of genotyping errors. Am J Hum Genet (1998) 3.37
Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31
Replication errors in benign and malignant tumors from hereditary nonpolyposis colorectal cancer patients. Cancer Res (1994) 3.25
Peutz-Jeghers syndrome: a systematic review and recommendations for management. Gut (2010) 3.22
A familial Alzheimer's disease locus on chromosome 1. Science (1995) 3.14
Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science (1992) 3.14
Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet (1994) 3.06
Microsatellite instability is a favorable prognostic indicator in patients with colorectal cancer receiving chemotherapy. Gastroenterology (2000) 3.01
Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res (1995) 2.93
Survey of human and rat microsatellites. Genomics (1992) 2.92
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome. Int J Cancer (1995) 2.85
Diagnosis of twin zygosity by mailed questionnaire. Hum Hered (1978) 2.85
Regulation of cytomegalovirus late gene expression: gamma genes are controlled by posttranscriptional events. J Virol (1986) 2.84
Clinicopathological staging for colorectal cancer: an International Documentation System (IDS) and an International Comprehensive Anatomical Terminology (ICAT). J Gastroenterol Hepatol (1991) 2.83
Lymphocytic infiltration and survival in rectal cancer. J Clin Pathol (1986) 2.80
A survey of the use of ultrasound guidance in internal jugular venous cannulation. Anaesthesia (2008) 2.79
DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J Clin Pathol (1999) 2.78
BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing. J Med Genet (2004) 2.75
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Tumour 'budding' as an index to estimate the potential of aggressiveness in rectal cancer. Histopathology (2002) 2.68
Direct mutational analysis in a family with hereditary non-polyposis colorectal cancer. Aust N Z J Med (1994) 2.68
Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut (2008) 2.65
Genetic analysis of indefinite division in human cells: evidence for a cell senescence-related gene(s) on human chromosome 4. Proc Natl Acad Sci U S A (1991) 2.64
Better survival rates in patients with MLH1-associated hereditary colorectal cancer. Gastroenterology (1996) 2.60
Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome. Nat Genet (2000) 2.53
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet (1994) 2.52
DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis. Hum Mol Genet (2001) 2.50
Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome. Cancer Res (1993) 2.48
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet (2000) 2.45
Characterization of human crossover interference. Am J Hum Genet (2000) 2.42
Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med (1995) 2.40
Duodenal adenomatosis in familial adenomatous polyposis. Gut (2004) 2.38
The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med (1988) 2.36
Ileorectal anastomosis is appropriate for a subset of patients with familial adenomatous polyposis. Gastroenterology (2000) 2.36
Restorative proctocolectomy with ileal reservoir: pathological and histochemical study of mucosal biopsy specimens. J Clin Pathol (1987) 2.33
Features of colorectal cancers with high-level microsatellite instability occurring in familial and sporadic settings: parallel pathways of tumorigenesis. Am J Pathol (2001) 2.29
Genomewide search for type 2 diabetes susceptibility genes in four American populations. Am J Hum Genet (2000) 2.19
Efficacy of murine malaria sporozoite vaccines: implications for human vaccine development. Science (1987) 2.17
A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet (1995) 2.16
Differential gene expression in colon cancer of the caecum versus the sigmoid and rectosigmoid. Gut (2005) 2.13